Phenotypes associated with the disease congenital diarrhea 6 (OMIM:614616):
- Decreased circulating vitamin B12 concentration (HP:0100502): The concentration of vitamin B12 in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 6/32. (PMID:22436048)
- Crohn's disease (HP:0100280): A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. Evidence: PCS. Frequency: 4/32. (PMID:22436048)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:22436048)
- Meteorism (HP:6000319): An increase in the gas content inside the bowel associated with distension of the abdomen and hydroaeric noises. The most common symptom of meteorism is a bloated sensation. It may be associated with abdominal discomfort. Some individuals may also complain of a distended stomach and excessive belching and/or passage of flatus. Evidence: PCS. Frequency: 27/28. (PMID:22436048)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:22436048)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: PCS. (PMID:22436048)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 32/32. (PMID:22436048)